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- Bb25a4bff6e2c173603f81b2badc485e6 NCIT_P378 "NICHD" @default.
- Bb25a4bff6e2c173603f81b2badc485e6 type Axiom @default.
- Bb25a4bff6e2c173603f81b2badc485e6 annotatedProperty NCIT_P325 @default.
- Bb25a4bff6e2c173603f81b2badc485e6 annotatedSource NCIT_C2993 @default.
- Bb25a4bff6e2c173603f81b2badc485e6 annotatedTarget "A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism." @default.